User profiles for Curt Scharfe
Curt ScharfeYale University School of Medicine Verified email at yale.edu Cited by 6074 |
Evolutionary rate in the protein interaction network
High-throughput screens have begun to reveal the protein interaction network that underpins
most cellular functions in the yeastSaccharomyces cerevisiae. How the organization of this …
most cellular functions in the yeastSaccharomyces cerevisiae. How the organization of this …
Role of duplicate genes in genetic robustness against null mutations
Deleting a gene in an organism often has little phenotypic effect 1 , 2 , 3 , 4 , 5 , owing to two
mechanisms of compensation 4 , 5 , 6 , 7 , 8 , 9 , 10 . The first is the existence of duplicate …
mechanisms of compensation 4 , 5 , 6 , 7 , 8 , 9 , 10 . The first is the existence of duplicate …
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted …
…, S Hofmann, F Gekeler, C Scharfe… - Human molecular …, 1998 - academic.oup.com
Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes
mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including …
mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including …
The role of selection in the evolution of human mitochondrial genomes
…, K Davis, G Passarino, PA Underhill, C Scharfe… - Genetics, 2006 - academic.oup.com
High mutation rate in mammalian mitochondrial DNA generates a highly divergent pool of
alleles even within species that have dispersed and expanded in size recently. Phylogenetic …
alleles even within species that have dispersed and expanded in size recently. Phylogenetic …
Systematic screen for human disease genes in yeast
High similarity between yeast and human mitochondria allows functional genomic study of
Saccharomyces cerevisiae to be used to identify human genes involved in disease 1. So far, …
Saccharomyces cerevisiae to be used to identify human genes involved in disease 1. So far, …
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
…, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe… - Nature …, 2000 - nature.com
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired
scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and …
scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and …
[HTML][HTML] Integrative analysis of the mitochondrial proteome in yeast
In this study yeast mitochondria were used as a model system to apply, evaluate, and
integrate different genomic approaches to define the proteins of an organelle. Liquid …
integrate different genomic approaches to define the proteins of an organelle. Liquid …
[HTML][HTML] Mapping gene associations in human mitochondria using clinical disease phenotypes
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and
debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been …
debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been …
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of …
…, R Saneto, M Santorsola, C Scharfe… - Molecular genetics and …, 2015 - Elsevier
Success rates for genomic analyses of highly heterogeneous disorders can be greatly
improved if a large cohort of patient data is assembled to enhance collective capabilities for …
improved if a large cohort of patient data is assembled to enhance collective capabilities for …
Massively parallel discovery of human-specific substitutions that alter enhancer activity
Genetic changes that altered the function of gene regulatory elements have been implicated
in the evolution of human traits such as the expansion of the cerebral cortex. However, …
in the evolution of human traits such as the expansion of the cerebral cortex. However, …